Table 1.
Phenotypes and Genotypes of Colombian Pompe Disease Patients
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 | Patient 11 | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Clinical features | |||||||||||
| Gender | M | M | F | F | M | M | M | F | M | M | M |
| First symptoms (years) | 1.1 | 6 | 12 | 20 | 19 | 17 | 27 | 38 | 10 | 15 | 0.3 |
| Age at diagnosis (years) | 5 | 11 | 29 | 33 | 35 | 36 | 31 | 47 | 19 | 20 | 2 |
| Initial clinical signs | Pl | LW | LW | LW | LW | LW | LW | LW | LW | LW | HDMD |
| Muscle weakness | LL | WC | LL | LL | LL | LL | LL | LL | LL | WC | RPMW |
| Respiratory distress | VS | VS | No | No | No | No | O | O and FE | VS/night | VS | VS |
| Cardiomyopathy | No | No | No | No | No | No | No | No | No | No | Yes |
| Hepatomegaly | Yes | No | No | No | No | No | No | No | No | No | No |
| Underweight | Yes | No | No | No | No | No | No | No | No | No | Yes |
| Associated | FD | SDB | No | No | No | No | No | No | SDB | FD | FD |
| CK (IU/L) | 127 | 545 | 332 | No data | No data | No data | 488 | 912 | 977 | 736 | 350 |
| AST/ALT (IU/L) | 142/144 | 187/112 | 66/70 | No data | No data | No data | 56/46 | 46/44 | 125/118 | 213/154 | 226/180 |
| GAA mutations | |||||||||||
| c.1064T>C (p.Leu355 Pro) | c.1064T>C (p.Leu355 Pro) | c.-32-13T>G | c.2481+102_ 2646del (p.Gly828_ Asn882del) | Idem Pt4 | Idem Pt4 | c.2560 C>T (p.Arg 854X) | c.-32-13T>G | c.2560 C>T (p.Arg 854X) | c.2560 C>T (p.Arg 854X) | c.2560C>T (p.Arg854X) | |
| c.1106T >C (p.Leu369 Pro)* | c.525delT (p.Glu176 fsx45) | c.-32-2A>G | Idem Pt4 | Idem Pt4 | c.1581 A>G (p.Arg 527Arg) | c.1551+42A>G | c.1551+42A>G | c.2236 T>C (p.Trp746 Arg)* | |||
| c.-32-13T>G | c.1581A >G (p.Arg527 Arg) | c.1551+42A>G | c.596G >A (p.Arg 199His) | ||||||||
| c.596G >A (p.Arg199 His) | c.596G >A (p.Arg199 His) | c.596G >A (p.Arg199 His) | c.68A >G (p.His223 Arg) | ||||||||
| c.668A >G (p.His223 Arg) | c.668A >G (p.His223 Arg) | c.668A >G (p.His223 Arg) | c.2553A >G (p.Gly851 Gly) | ||||||||
| c.1551+49A>C | c.2338A >G (p.Ile780 Val) | c.2338A >G (p.Ile780 Val) | c.1551+49A>C | ||||||||
| c.2338A >G (p.Ile780Val) | c.2553A >G(p.Gly851 Gly) | c.2553A >G (p.Gly851 Gly) | |||||||||
| Laboratory findings | |||||||||||
| CK (IU/L) | 127 | 545 | 332 | No data | No data | No data | 488 | 912 | 977 | 736 | 350 |
| AST/ALT (IU/L) | 142/144 | 187/112 | 66/70 | No data | No data | No data | 56/46 | 46/44 | 125/118 | 213/154 | 226/180 |
Pl Pulmonary, LW Limbgirdle weakness, HDMD Hypotonia/delayed motor development, LL Lower limbs, WC Wheelchair; O Orthopnea, FE Fatigue on exertion, FD Feeding difficulties, SDB Sleep-disordered breathing, RPMW Rapidly progressive muscle weakness.
Underlined mutations denote homozygous status; mutations in bold are pathogenic; *denotes novel mutations.